{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340478770",
  "communityStandardTitle": [
    "NM_174936.4(PCSK9):c.1394C>A (p.Ser465Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3546587[alleleid]",
        "alleleId": 3546587,
        "preferredName": "NM_174936.4(PCSK9):c.1394C>A (p.Ser465Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3387453",
        "RCV": [
          "RCV004807711"
        ],
        "variationId": 3387453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.55524211C>A?assembly=hg19",
        "id": "chr1:g.55524211C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.55058538C>A?assembly=hg38",
        "id": "chr1:g.55058538C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778849441",
        "rs": 778849441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-55524211-C-A?dataset=gnomad_r2_1",
        "id": "1-55524211-C-A",
        "variant": "1:55524211 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-55058538-C-A?dataset=gnomad_r4",
        "id": "1-55058538-C-A",
        "variant": "1:55058538 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55058538,
          "referenceAllele": "C",
          "start": 55058537
        }
      ],
      "hgvs": [
        "NC_000001.11:g.55058538C>A",
        "CM000663.2:g.55058538C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55524211,
          "referenceAllele": "C",
          "start": 55524210
        }
      ],
      "hgvs": [
        "NC_000001.10:g.55524211C>A",
        "CM000663.1:g.55524211C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 55296799,
          "referenceAllele": "C",
          "start": 55296798
        }
      ],
      "hgvs": [
        "NC_000001.9:g.55296799C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23992,
          "referenceAllele": "C",
          "start": 23991
        }
      ],
      "hgvs": [
        "NG_009061.1:g.23992C>A",
        "LRG_275:g.23992C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001403"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "C",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673913.2:c.1394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501161.2:p.Ser465Ter",
        "hgvsWellDefined": "ENSP00000501161.2:p.Ser465_Ile589delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyPheLeuAlaLeuAlaSerAspLeuLysGluArgGlySerAspGlyAspGlyHisTrpArgArgSerIleProAlaPheHisIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000710286.1:c.1751C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518176.1:p.Ser584Ter",
        "hgvsWellDefined": "ENSP00000518176.1:p.Ser584_Gln811delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673903.1:c.1019C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501257.1:p.Ser340Ter",
        "hgvsWellDefined": "ENSP00000501257.1:p.Ser340_Gln567delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673913.1:c.134C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501161.1:p.Ser45Ter",
        "hgvsWellDefined": "ENSP00000501161.1:p.Ser45_Ile169delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyPheLeuAlaLeuAlaSerAspLeuLysGluArgGlySerAspGlyAspGlyHisTrpArgArgSerIleProAlaPheHisIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000302118.5:c.1394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303208.5:p.Ser465Ter",
        "hgvsWellDefined": "ENSP00000303208.5:p.Ser465_Gln692delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247137",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.1394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.1394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Ser465Ter"
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Ser465Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000490692.1:n.2118C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057332400",
      "coordinates": [
        {
          "allele": "A",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.3:c.1394C>A",
        "LRG_275t1:c.1394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Ser465Ter",
        "hgvsWellDefined": "NP_777596.2:p.Ser465_Gln692delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.1:n.1001C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "XM_011541193.1:c.515C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539495.1:p.Ser172Ter",
        "hgvsWellDefined": "XP_011539495.1:p.Ser172_Gln399delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057332400",
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.4:c.1394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Ser465Ter",
        "hgvsWellDefined": "NP_777596.2:p.Ser465_Gln692delinsGlyProThrArgMetAlaThrAlaValAlaArgCysAlaProAspGluGluLeuLeuSerCysSerSerPheSerArgSerGlyLysArgArgGlyGluArgMetGluAlaGlnGlyGlyLysLeuValCysArgAlaHisAsnAlaPheGlyGlyGluGlyValTyrAlaIleAlaArgCysCysLeuLeuProGlnAlaAsnCysSerValHisThrAlaProProAlaGluAlaSerMetGlyThrArgValHisCysHisGlnGlnGlyHisValLeuThrGlyCysSerSerHisTrpGluValGluAspLeuGlyThrHisLysProProValLeuArgProArgGlyGlnProAsnGlnCysValGlyHisArgGluAlaSerIleHisAlaSerCysCysHisAlaProGlyLeuGluCysLysValLysGluHisGlyIleProAlaProGlnGluGlnValThrValAlaCysGluGluGlyTrpThrLeuThrGlyCysSerAlaLeuProGlyThrSerHisValLeuGlyAlaTyrAlaValAspAsnThrCysValValArgSerArgAspValSerThrThrGlySerThrSerGluGlyAlaValThrAlaValAlaIleCysCysArgSerArgHisLeuAlaGlnAlaSerGlnGluLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.1394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.1394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Ser465Ter"
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Ser465Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.2:n.1001C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730710"
    }
  ],
  "type": "nucleotide"
}